Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.420 GeneticVariation disease BEFREE De novo gain of function mutations in GRIN2B encoding the GluN2B subunit of the N-methyl-d-aspartate (NMDA) receptor have been linked with epileptic encephalopathies, including infantile spasms. 28533163 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.420 GermlineCausalMutation disease ORPHANET We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. 24272827 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.420 GeneticVariation disease BEFREE We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. 24272827 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.420 Biomarker disease HPO